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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA345918
Gene: MT-ND5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155889
ClinVar RCV Id:
RCV000144017
RCV002260618
RCV003333959
dbSNP Id:
rs587776440
MyVariant Identifiers:
chrMT:g.13514A>G (hg38)
ERepo:
CA345918/MONDO:0044970/014
PubMed:
PMID:14684687
PMID:15576045
PMID:20301352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.13514A>G , J01415.2:m.13514A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361567.2:c.1178A>G
ENSP00000354813.2:p.Asp393Gly
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